Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome (VAIHS)

External Ids:

OMIM 58 615688 MeSH 45 D010488 ICD10 34 L95.9

Orphanet 60 ORPHA404553 MedGen 43 C0031036 C3887654 SNOMED-CT via HPO 70 111583006 119250001 12393003 127034005 16110005 16294009 165397008 166603001 166643006 21522001 22125009 230690007 234532001 24184005 24199005 25064002 258211005 266261006 26825009 271737000 28670008 302226006 31996006 32861005 34742003 3723001 38341003 386033004 386661006 387778001 415115007 423902002 42658009 432119003 50177009 50582007 6631009 68962001 75183008 76976005 80515008 84828003 85102008 85659009 87486003 more

OMIM : ⁵⁸ Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014). Lee (2018) reviewed the basic biology of ADA2 and the various clinical manifestations of ADA2 deficiency, which include vasculitis affecting small- and medium-sized vessels causing early-onset stroke with subsequent neurologic signs, skin ulcerations resembling polyarteritis nodosa, peripheral neuropathy, immunodeficiency, autoimmune features, and hematologic abnormalities, including anemia and leukopenia. The clinical features are highly pleiotropic, and patients can present with only some of these main features. The hematologic manifestations of the disorder may sometimes resemble Diamond-Blackfan anemia (see, e.g., DBA1, 105650). (615688)

MalaCards based summary : Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome, also known as polyarteritis nodosa, childhood-onset, is related to cutaneous polyarteritis nodosa and sneddon syndrome. An important gene associated with Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome is ADA2 (Adenosine Deaminase 2). Affiliated tissues include skin, brain and kidney, and related phenotypes are hypertension and optic atrophy

Genetics Home Reference : ²⁶ Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.

NIH Rare Diseases : ⁵⁴ Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain, an enlarged liver or spleen, and areas of skin discoloration known as livedo racemosa or livedo reticularis. The strokes can affect physical or cognitive functioning. Other symptoms may include high blood pressure, aneurysms, immune system abnormalities, and necrosis of the fingers/toes. ADA2 deficiency is thought to be caused by mutations in the CECR1 gene and inherited in an autosomal recessive manner. Mutations in the CECR1 gene have also been associated with a familial form of Sneddon syndrome. Individuals with this form of Sneddon syndrome have been reported to have similar findings as those with ADA2 deficiency but with a later onset. 

UniProtKB/Swiss-Prot : ⁷⁶ Polyarteritis nodosa: A systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.

Wikipedia : ⁷⁷ The Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... more...

Clinical features from OMIM:

615688

Search Clinical Trials , NIH Clinical Center for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome

Search GEO for disease gene expression data for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome.